Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Analysis of human sarcospan as a candidate gene for CFEOM1.

BMC genetics - 1 Jan 2001

O'Brien K F, Engle E C, Kunkel L M

Abstract excerpt

BACKGROUND: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrophin associated protein complex in skeletal and extraocular muscle and maps to human chromosome 12p11.2. Mutations in the genes encoding each of the other components of the skeletal muscle...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins
Share to Chromosomes, Artificial, Bacterial
Share to Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescent Antibody Technique

Share to Gene Components

Share to Neoplasm Proteins

Share to Ocular Motility Disorders

Share to Oculomotor Muscles

Source

Open in PubMed Open full text

Identifiers

PMID: 11180757
DOI: 10.1186/1471-2156-2-3
PMCID: PMC29083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of human sarcospan as a candidate gene for CFEOM1.PMID 11180757Read ↗

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.Semantic proximity Read ↗

A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region.Semantic proximity Read ↗

Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.Semantic proximity Read ↗

Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactionsSemantic proximity Read ↗

Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneitySemantic proximity Read ↗

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.Semantic proximity Read ↗

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.Semantic proximity Read ↗

Investigation of albinism genes in congenital esotropia.Semantic proximity Read ↗

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.Semantic proximity Read ↗

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.Semantic proximity Read ↗

The epsilon-sarcoglycan gene in myoclonic syndromes.Semantic proximity Read ↗

Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.